title: Can inherited thrombophilia modulate the clinical phenotype of patients with antiphospholipid syndrome?
abstract: OBJECTIVE
  The current case-control study was aimed to determine the prevalence and the clinical significance of inherited thrombophilia - factor V Leiden and G20210A prothrombin polymorphisms - in patients with antiphospholipid syndrome (APS).
  
  
  METHODS
  100 patients with APS (77 with primary APS and 23 with systemic lupus erythematosus [SLE]-APS), and 100 patients with first lower extremity deep venous thrombosis (DVT), and 200 healthy individuals as a control groups were analysed. Patients and control group were tested for factor V Leiden and prothrombin G20210A gene polymorphism.
  
  
  RESULTS
  Factor V Leiden variant was found in 1% of APS patients, in 3% of healthy individuals (p=0.49), and 16% of patients with first DVT (p<0.0005). Prothrombin gene polymorphism was found in 6% of APS patients and in 2.5% of healthy subjects (p=0.21), and 13% of patients with DVT (p=0.14). In primary APS patients, factor V Leiden was present in 1.3% (1/77) and prothrombin gene polymorphism in 6.5% (5/77). No patient with SLE-APS had factor V Leiden and prothrombin gene variant was present in only one patient (4.3%). Patients with prothrombin polymorphism had higher prevalence of venous thrombosis, with no statistical significance (80% vs. 47.9%, p=0.35). There were no differences in the prevalence of recurrent thrombosis before or after APS diagnosis in patients with or without prothrombin gene polymorphism.
  
  
  CONCLUSIONS
  Factor V Leiden and G20210A prothrombin variant seem to play no role in either the development of APS or in the type of involved vessel, with no increased risk of re-thrombosis during follow-up.
authors.affiliation: Department of Autoimmune Diseases, Hospital Clinic, Barcelona, Catalonia, Spain. decateamo@yahoo.com.ar.
authors.forename: Horacio
authors.initials: H
authors.lastname: Berman
authors.forename: Manuel F
authors.initials: MF
authors.lastname: Ugarte-Gil
authors.forename: Gerard
authors.initials: G
authors.lastname: Espinosa
authors.forename: Dolors
authors.initials: D
authors.lastname: Tàssies
authors.forename: Joan
authors.initials: J
authors.lastname: Monteagudo
authors.forename: Joan Carles
authors.initials: JC
authors.lastname: Reverter
authors.forename: Ricard
authors.initials: R
authors.lastname: Cervera
mesh_terms: D020016:Activated Protein C Resistance / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D000328:Adult; D016736:Antiphospholipid Syndrome / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D005165:Factor V / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic; D015995:Prevalence; D011379:Prognosis; D011516:Prothrombin / Q000235:genetics*; D012008:Recurrence; D018570:Risk Assessment; D012307:Risk Factors; D013030:Spain / Q000453:epidemiology; D020246:Venous Thrombosis / Q000453:epidemiology; D055815:Young Adult
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin